Neuraminidase deficiency: case report and review of the phenotype.
Open Access
- 1 May 1987
- journal article
- review article
- Published by BMJ in Journal of Medical Genetics
- Vol. 24 (5) , 283-290
- https://doi.org/10.1136/jmg.24.5.283
Abstract
A 12 year old boy with neuraminidase deficiency (sialidosis, mucolipidosis I) is described. His clinical features included coarse facies, cherry red spot, ataxia, myoclonus, and dysotosis multiplex. The level of neuraminidase activity in cultured fibroblasts was very low and intermediate levels were observed in both parents. The clinical disorders associated with neuraminidase deficiency are reviewed.This publication has 41 references indexed in Scilit:
- Combined sialidase (neuraminidase) and β‐galactosidase deficiency. Clinical, morphological and enzymological observations in a patientClinical Genetics, 1984
- A severe infantile sialidosis: Clinical, biochemical, and microscopic featuresThe Journal of Pediatrics, 1980
- Neuraminidase deficiency in the original patient with the Goldberg SyndromeClinical Genetics, 1979
- Sialidosis type 1: cherry red spot-myoclonus syndrome with sialidase deficiency and altered electrophoretic mobilities of some enzymes known to be glycoproteins. 1. Clinical findings.Journal of Neurology, Neurosurgery & Psychiatry, 1979
- The cherry red spot—myoclonus syndrome: A newly recognized inherited lysosomal storage disease due to acid neuraminidase deficiencyClinical Genetics, 1978
- Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementiaClinical Genetics, 1978
- The cherry‐red spot‐myoclonus syndromeAnnals of Neurology, 1978
- A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of hurler and sanfilippo diseasesClinica Chimica Acta; International Journal of Clinical Chemistry, 1977
- Mucolipidosis I — A sialidosisAmerican Journal of Medical Genetics, 1977
- Variability of acid hydrolase activities in cultured skin fibroblasts and amniotic fluid cells.Journal of Medical Genetics, 1975